Recombinant Human Synapsin-1 (SYN1), partial

Function

Neuronal phosphoprotein that coats synaptic vesicles, and binds to the cytoskeleton. Acts as a regulator of synaptic vesicles trafficking, involved in the control of neurotransmitter release at the pre-synaptic terminal (PubMed:21441247, PubMed:23406870). Also involved in the regulation of axon outgrowth and synaptogenesis (By similarity). The complex formed with NOS1 and CAPON proteins is necessary for specific nitric-oxid functions at a presynaptic level (By similarity)

Subcellular Location

Synapse; Golgi apparatus; Presynapse; Cytoplasmic vesicle, secretory vesicle, synaptic vesicle

Disease Association

Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders (EPILX1) : A neurologic disorder characterized by variable combinations of epilepsy, learning difficulties, macrocephaly, and aggressive behavior. [The disease is caused by variants affecting the gene represented in this entry] | Intellectual developmental disorder, X-linked 50 (XLID50) : A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. [The disease is caused by variants affecting the gene represented in this entry]

Subunit

Homodimer (By similarity). Can form oligomers with SYN2 (PubMed:23406870). Interacts with CAPON. Forms a ternary complex with NOS1 (By similarity). Isoform Ib interacts with PRNP (By similarity)

• Suedhof T.C. et al. The structure of the human synapsin I gene and protein. — J. Biol. Chem. (1990)
• Ross M.T. et al. The DNA sequence of the human X chromosome. — Nature (2005)
• Mural R.J. et al. PubMed: CI-5GBDQ6B103N1E (JUL-)
• Sauerwald A. et al. The 5'-flanking region of the synapsin I gene. A G+C-rich, TATA- and CAAT-less, phylogenetically conserved sequence with cell type-specific promoter function. — J. Biol. Chem. (1990)
• Garcia C.C. et al. Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. — J. Med. Genet. (2004)
• DeGiorgis J.A. et al. Phosphoproteomic analysis of synaptosomes from human cerebral cortex. — J. Proteome Res. (2005)
• Rigbolt K.T. et al. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. — Sci. Signal. (2011)
• Fassio A. et al. SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. — Hum. Mol. Genet. (2011)